ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829960717
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1988713
ClinVar RCV Id:
RCV002781438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066265.4:p.Val449Met
CA5497598
NM_020985.4:c.1345G>A